Canonical Allele Identifier: CA349517068
Community Standard Title: NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553242G>T , CM000664.2:g.178553242G>T GRCh38
NC_000002.11:g.179417969G>T , CM000664.1:g.179417969G>T GRCh37
NC_000002.10:g.179126215G>T NCBI36
NG_011618.3:g.282561C>A , LRG_391:g.282561C>A
NG_051363.1:g.35416G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89658C>A (TTN) MANE Select NP_001254479.2:p.Tyr29886Ter
ENST00000589042.5:c.89658C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr29886Ter
NM_001256850.1:c.84735C>A (TTN) NP_001243779.1:p.Tyr28245Ter
NM_003319.4:c.62463C>A (TTN) NP_003310.4:p.Tyr20821Ter
NM_133378.4:c.81954C>A (TTN) NP_596869.4:p.Tyr27318Ter
NM_133432.3:c.62838C>A (TTN) NP_597676.3:p.Tyr20946Ter
NM_133437.4:c.63039C>A (TTN) NP_597681.4:p.Tyr21013Ter
NR_038271.1:n.447-18058G>T (TTN-AS1)
NR_038272.1:n.2043+10881G>T (TTN-AS1)
ENST00000342175.10:c.63039C>A (TTN) ENSP00000340554.6:p.Tyr21013Ter
ENST00000342175.11:c.63039C>A (TTN) ENSP00000340554.6:p.Tyr21013Ter
ENST00000342992.10:c.81954C>A (TTN) ENSP00000343764.6:p.Tyr27318Ter
ENST00000342992.11:c.81954C>A (TTN) ENSP00000343764.6:p.Tyr27318Ter
ENST00000359218.10:c.62838C>A (TTN) ENSP00000352154.5:p.Tyr20946Ter
ENST00000359218.9:c.62838C>A (TTN) ENSP00000352154.5:p.Tyr20946Ter
ENST00000460472.6:c.62463C>A (TTN) ENSP00000434586.1:p.Tyr20821Ter
ENST00000591111.5:c.84735C>A (TTN) ENSP00000465570.1:p.Tyr28245Ter
ENST00000615779.4:c.84735C>A (TTN) ENSP00000483597.1:p.Tyr28245Ter
XM_011511729.1:c.88755C>A (TTN) XP_011510031.1:p.Tyr29585Ter
XM_011511730.1:c.62649C>A (TTN) XP_011510032.1:p.Tyr20883Ter
XM_011511731.1:c.62508C>A (TTN) XP_011510033.1:p.Tyr20836Ter
XM_017004819.1:c.88551C>A (TTN) XP_016860308.1:p.Tyr29517Ter
XM_017004820.1:c.83949C>A (TTN) XP_016860309.1:p.Tyr27983Ter
XM_017004821.1:c.83946C>A (TTN) XP_016860310.1:p.Tyr27982Ter
XM_017004822.1:c.80988C>A (TTN) XP_016860311.1:p.Tyr26996Ter
XM_017004823.1:c.62604C>A (TTN) XP_016860312.1:p.Tyr20868Ter
XM_024453094.1:c.84099C>A (TTN) XP_024308862.1:p.Tyr28033Ter
XM_024453095.1:c.84096C>A (TTN) XP_024308863.1:p.Tyr28032Ter
XM_024453096.1:c.83529C>A (TTN) XP_024308864.1:p.Tyr27843Ter
XM_024453097.1:c.80871C>A (TTN) XP_024308865.1:p.Tyr26957Ter
XM_024453098.1:c.80790C>A (TTN) XP_024308866.1:p.Tyr26930Ter
XM_024453099.1:c.62553C>A (TTN) XP_024308867.1:p.Tyr20851Ter
XM_024453100.1:c.52407C>A (TTN) XP_024308868.1:p.Tyr17469Ter